Incidental Mutation 'R9547:Crnkl1'
| ID |
720158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crnkl1
|
| Ensembl Gene |
ENSMUSG00000001767 |
| Gene Name |
crooked neck pre-mRNA splicing factor 1 |
| Synonyms |
crn, 5730590A01Rik, 1200013P10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R9547 (G1)
|
| Quality Score |
217.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
145759402-145776620 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145772550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 176
(M176V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001818]
[ENSMUST00000116398]
[ENSMUST00000118002]
[ENSMUST00000126415]
[ENSMUST00000130168]
[ENSMUST00000133433]
[ENSMUST00000138774]
[ENSMUST00000152515]
|
| AlphaFold |
P63154 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001818
AA Change: M176V
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: M176V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
52 |
N/A |
INTRINSIC |
|
HAT
|
61 |
93 |
4.57e-2 |
SMART |
|
HAT
|
95 |
127 |
3.48e-7 |
SMART |
|
HAT
|
129 |
161 |
3.33e-4 |
SMART |
|
HAT
|
163 |
194 |
2.48e-3 |
SMART |
|
HAT
|
196 |
227 |
1.32e-7 |
SMART |
|
HAT
|
229 |
264 |
2.11e-6 |
SMART |
|
HAT
|
266 |
300 |
2.07e0 |
SMART |
|
Blast:HAT
|
310 |
342 |
1e-13 |
BLAST |
|
HAT
|
344 |
378 |
3.88e-5 |
SMART |
|
HAT
|
388 |
424 |
6.86e-6 |
SMART |
|
HAT
|
426 |
457 |
1.92e2 |
SMART |
|
HAT
|
459 |
491 |
1.29e-1 |
SMART |
|
HAT
|
493 |
527 |
2e-7 |
SMART |
|
HAT
|
529 |
560 |
8.07e-3 |
SMART |
|
coiled coil region
|
566 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116398
|
| SMART Domains |
Protein: ENSMUSP00000112099
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
237 |
1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118002
|
| SMART Domains |
Protein: ENSMUSP00000113529
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126415
|
| SMART Domains |
Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b87a_
|
183 |
244 |
1e-5 |
SMART |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130168
|
| SMART Domains |
Protein: ENSMUSP00000121294
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133433
|
| SMART Domains |
Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4821
|
15 |
272 |
1.1e-96 |
PFAM |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
1172 |
1182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138774
|
| SMART Domains |
Protein: ENSMUSP00000120838
Gene: ENSMUSG00000037143
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
SCOP:d1b87a_
|
99 |
153 |
2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152515
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
G |
T |
3: 59,772,656 (GRCm39) |
M53I |
probably benign |
Het |
| Abtb1 |
C |
T |
6: 88,815,917 (GRCm39) |
V185M |
probably damaging |
Het |
| Acod1 |
A |
T |
14: 103,292,294 (GRCm39) |
S273C |
probably benign |
Het |
| Aifm3 |
T |
C |
16: 17,317,604 (GRCm39) |
V75A |
probably benign |
Het |
| Anks1 |
T |
C |
17: 28,270,748 (GRCm39) |
L845P |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,445,311 (GRCm39) |
K736E |
possibly damaging |
Het |
| Atad2 |
A |
G |
15: 57,989,973 (GRCm39) |
S168P |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,759,757 (GRCm39) |
A143T |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,380,841 (GRCm39) |
H116L |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,683,186 (GRCm39) |
R542H |
unknown |
Het |
| Dnah14 |
A |
C |
1: 181,420,992 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
A |
G |
12: 110,624,805 (GRCm39) |
E3744G |
probably damaging |
Het |
| Ednrb |
T |
C |
14: 104,080,459 (GRCm39) |
I152V |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,911,142 (GRCm39) |
I1620N |
possibly damaging |
Het |
| Fbxo4 |
G |
A |
15: 3,998,493 (GRCm39) |
P322S |
probably damaging |
Het |
| Fbxw10 |
G |
T |
11: 62,767,647 (GRCm39) |
V828F |
possibly damaging |
Het |
| Gm7579 |
CTGTGTG |
CTGTG |
7: 141,765,736 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
C |
8: 70,273,381 (GRCm39) |
S891P |
possibly damaging |
Het |
| Grb10 |
A |
G |
11: 11,893,919 (GRCm39) |
I389T |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hhatl |
A |
G |
9: 121,618,649 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ighv1-69 |
A |
G |
12: 115,586,885 (GRCm39) |
F83L |
possibly damaging |
Het |
| Intu |
G |
A |
3: 40,608,536 (GRCm39) |
V183I |
probably benign |
Het |
| Ipo4 |
A |
G |
14: 55,870,789 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
C |
4: 74,323,104 (GRCm39) |
D1012A |
possibly damaging |
Het |
| Klrc2 |
C |
G |
6: 129,633,812 (GRCm39) |
A188P |
probably benign |
Het |
| Lipc |
T |
C |
9: 70,728,146 (GRCm39) |
D104G |
unknown |
Het |
| Lrrc63 |
A |
T |
14: 75,344,828 (GRCm39) |
L420M |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,161,069 (GRCm39) |
|
probably null |
Het |
| Mrpl50 |
T |
A |
4: 49,514,338 (GRCm39) |
H111L |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,779,855 (GRCm39) |
I78T |
possibly damaging |
Het |
| Npepl1 |
A |
G |
2: 173,962,030 (GRCm39) |
D304G |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
| Or2n1d |
G |
T |
17: 38,646,341 (GRCm39) |
V98F |
possibly damaging |
Het |
| Or5k3 |
T |
C |
16: 58,970,107 (GRCm39) |
I298T |
possibly damaging |
Het |
| Or8g24 |
G |
A |
9: 38,989,927 (GRCm39) |
T38I |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,709,506 (GRCm39) |
I603K |
possibly damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,484,174 (GRCm39) |
Y818N |
unknown |
Het |
| Phf10 |
A |
G |
17: 15,166,459 (GRCm39) |
|
probably null |
Het |
| Phgdh |
A |
G |
3: 98,241,950 (GRCm39) |
S55P |
probably damaging |
Het |
| Poll |
G |
T |
19: 45,546,359 (GRCm39) |
P227H |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,861,561 (GRCm39) |
S576R |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,214,087 (GRCm39) |
I192V |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,977,873 (GRCm39) |
D1038G |
probably benign |
Het |
| Snx18 |
A |
G |
13: 113,753,754 (GRCm39) |
M393T |
possibly damaging |
Het |
| Srsf11 |
A |
G |
3: 157,717,735 (GRCm39) |
C448R |
unknown |
Het |
| Sv2c |
A |
G |
13: 96,185,008 (GRCm39) |
I223T |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,330,950 (GRCm39) |
V43A |
possibly damaging |
Het |
| Tex21 |
T |
C |
12: 76,253,591 (GRCm39) |
T441A |
probably damaging |
Het |
| Thnsl2 |
T |
A |
6: 71,116,810 (GRCm39) |
D114V |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,748,467 (GRCm39) |
V1401A |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,049,588 (GRCm39) |
S769P |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,370,429 (GRCm39) |
D776G |
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,931,567 (GRCm39) |
S222P |
probably damaging |
Het |
| Ublcp1 |
T |
C |
11: 44,347,251 (GRCm39) |
Y290C |
probably damaging |
Het |
| Vmn1r216 |
A |
T |
13: 23,283,455 (GRCm39) |
D46V |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,112,735 (GRCm39) |
F789I |
probably damaging |
Het |
| Zfp266 |
A |
G |
9: 20,411,746 (GRCm39) |
S144P |
probably benign |
Het |
|
| Other mutations in Crnkl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Crnkl1
|
APN |
2 |
145,760,388 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01092:Crnkl1
|
APN |
2 |
145,761,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01643:Crnkl1
|
APN |
2 |
145,773,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01902:Crnkl1
|
APN |
2 |
145,766,632 (GRCm39) |
splice site |
probably null |
|
|
IGL01908:Crnkl1
|
APN |
2 |
145,770,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01934:Crnkl1
|
APN |
2 |
145,773,202 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01947:Crnkl1
|
APN |
2 |
145,763,744 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02342:Crnkl1
|
APN |
2 |
145,766,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02721:Crnkl1
|
APN |
2 |
145,765,801 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02794:Crnkl1
|
APN |
2 |
145,772,532 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02877:Crnkl1
|
APN |
2 |
145,762,591 (GRCm39) |
nonsense |
probably null |
|
|
IGL03131:Crnkl1
|
APN |
2 |
145,774,178 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0326:Crnkl1
|
UTSW |
2 |
145,761,875 (GRCm39) |
missense |
probably benign |
|
|
R1462:Crnkl1
|
UTSW |
2 |
145,763,739 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1462:Crnkl1
|
UTSW |
2 |
145,763,739 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1471:Crnkl1
|
UTSW |
2 |
145,774,236 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1951:Crnkl1
|
UTSW |
2 |
145,770,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1952:Crnkl1
|
UTSW |
2 |
145,770,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1953:Crnkl1
|
UTSW |
2 |
145,770,120 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2112:Crnkl1
|
UTSW |
2 |
145,772,617 (GRCm39) |
nonsense |
probably null |
|
|
R2405:Crnkl1
|
UTSW |
2 |
145,770,077 (GRCm39) |
nonsense |
probably null |
|
|
R2972:Crnkl1
|
UTSW |
2 |
145,774,181 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2973:Crnkl1
|
UTSW |
2 |
145,774,181 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2974:Crnkl1
|
UTSW |
2 |
145,774,181 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3801:Crnkl1
|
UTSW |
2 |
145,761,715 (GRCm39) |
missense |
probably benign |
|
|
R3811:Crnkl1
|
UTSW |
2 |
145,773,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4037:Crnkl1
|
UTSW |
2 |
145,774,247 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4038:Crnkl1
|
UTSW |
2 |
145,774,247 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4039:Crnkl1
|
UTSW |
2 |
145,774,247 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4976:Crnkl1
|
UTSW |
2 |
145,765,796 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5396:Crnkl1
|
UTSW |
2 |
145,770,132 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5868:Crnkl1
|
UTSW |
2 |
145,760,473 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6245:Crnkl1
|
UTSW |
2 |
145,770,051 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6564:Crnkl1
|
UTSW |
2 |
145,770,165 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7772:Crnkl1
|
UTSW |
2 |
145,772,564 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7787:Crnkl1
|
UTSW |
2 |
145,767,515 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7829:Crnkl1
|
UTSW |
2 |
145,773,269 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8022:Crnkl1
|
UTSW |
2 |
145,760,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8045:Crnkl1
|
UTSW |
2 |
145,774,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Crnkl1
|
UTSW |
2 |
145,773,350 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9211:Crnkl1
|
UTSW |
2 |
145,774,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9256:Crnkl1
|
UTSW |
2 |
145,770,216 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9274:Crnkl1
|
UTSW |
2 |
145,765,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Crnkl1
|
UTSW |
2 |
145,770,198 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9678:Crnkl1
|
UTSW |
2 |
145,761,875 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCTACATGTCTTTACTGTGAC -3'
(R):5'- AATGAAGCCTTCCTCCCCTATG -3'
Sequencing Primer
(F):5'- ACATCTTTTTGGGAGGTAGATACC -3'
(R):5'- ATTTTGACCACAGCAGGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation